Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 |
Green in HaematuriaR-numbers: R194 Signed-off version 2.4 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Alport syndrome, autosomal recessive, 203780, Hematuria, benign familial, 141200, Alport syndrome, autosomal dominant, 104200, Alport Syndrome, Hematuria, Benign Familial, Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive, Alport Syndrome, Autosomal Dominant, thin glomerular basement membrane nephropathy or Alport syndrome, Alport syndrome, autosomal dominant, Alport syndrome, autosomal recessive, Alport Syndrome, (originally on Alport syndrome gene panel) |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200 |
R-numbers: R257 Signed-off version 5.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Alport syndrome, autosomal recessive, 203780, Alport syndrome, autosomal dominant, 104200, Hematuria, benign familial, 141200 |